immunodeficiency 53 (DOID:0111992)
Alliance: disease page
Synonyms: IMD53
Alt IDs: OMIM:617585, UMLS_CUI:C4539811
Definition: A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.